Variant: rs370521183 

    present in Gene: KCNT1
    present in Chromosome: 9
    Position on Chromosome: 135775346
    Alleles of this Variant: C/A;G;T

rs370521183 in KCNT1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 23086397 2012 De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

PMID 24029078 2013 A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.